F9 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method   69483-6

LOINC Code


LOINC code69483-6
nameF9 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
descriptionThis term is used for confirming a diagnosis of hemophilia B (factor IX deficiency) in males and identifying carrier females in families where an F9 (factor IX) mutation has been previously identified in affected individual. Mutation analysis only includes testing for the known familial mutation.
statusACTIVE

Fully-Specified Name

componentF9 gene mutation analysis limited to known familial mutations
propertyFind  =  Finding
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameF9 gene Fam Mut Anl Bld/T

Basic Attributes

classMOLPATH.MUT
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

Blood
Christmas factor
Coagulation Factor 9 gene
coagulation factor IX
Coagulation Factor IX gene
Document
Fam Mut Anl
Finding
Findings
FIX
Genetics
HEMB
Heredity
Heritable
Inherited
LMTED
LTD
Molecular genetics
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutation
Mutations
Muts
P19
PCR
Point in time
PTC
Random
THPH8
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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